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rs104894910

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894910(C;C)
Make rs104894910(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position41473734
GeneNYX
is asnp
is mentioned by
dbSNPrs104894910
dbSNP (classic)rs104894910
ClinGenrs104894910
ebirs104894910
HLIrs104894910
Exacrs104894910
Gnomadrs104894910
Varsomers104894910
LitVarrs104894910
Maprs104894910
PheGenIrs104894910
Biobankrs104894910
1000 genomesrs104894910
hgdprs104894910
ensemblrs104894910
geneviewrs104894910
scholarrs104894910
googlers104894910
pharmgkbrs104894910
gwascentralrs104894910
openSNPrs104894910
23andMers104894910
SNPshotrs104894910
SNPdbers104894910
MSV3drs104894910
GWAS Ctlgrs104894910
Max Magnitude0
OMIM300278
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894910(C;C)
Alt rs104894910(C;C)
Reference Rs104894910(G;G)
Significance Pathogenic
Disease Congenital stationary night blindness
Variation info
Gene NYX
CLNDBN Congenital stationary night blindness, type 1A
Reversed 0
HGVS NC_000023.10:g.41332987G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012177.11,